Koch M C, Ricker K, Otto M, Grimm T, Hoffman E P, Rüdel R, Bender K, Zoll B, Harper P S, Lehmann-Horn F
Abteilung Allgemeine Humangenetik, Phillips Universität Marburg, Germany.
J Med Genet. 1991 Sep;28(9):583-6. doi: 10.1136/jmg.28.9.583.
Linkage studies were performed in six European families with hyperkalaemic periodic paralysis (PPII) with myotonia, an autosomal dominantly inherited disorder characterised by episodic weakness. The weakness is caused by non-inactivating sodium channels of reduced single channel conductance of the muscle fibre membrane. Recently, portions of the gene coding for the alpha subunit of the sodium channel of the adult human skeletal muscle (h-Na2) have been cloned and localised on chromosome 17q with no recombinants to the human growth hormone locus (GH1). Linkage between these two chromosome 17 markers and the disease was shown in our families (Z = 7.14, 0 = 0.00). These results, combined with the linkage data of a single large American family, suggest that the disease is caused by dominant mutations of the adult sodium channel, and that it is probably a genetically homogeneous disorder. Hyperkalaemic periodic paralysis is the first non-progressive myotonic disorder to be localised on the human genome.
对六个患有高钾性周期性麻痹（PPII）并伴有肌强直的欧洲家族进行了连锁研究，这是一种常染色体显性遗传疾病，其特征为发作性肌无力。肌无力是由肌纤维膜上单通道电导降低的非失活性钠通道引起的。最近，已克隆出成体人类骨骼肌钠通道α亚基的编码基因部分（h-Na2），并将其定位在17号染色体上，与人类生长激素基因座（GH1）无重组。在我们的家族中显示出这两个17号染色体标记与该疾病之间存在连锁关系（Z = 7.14，0 = 0.00）。这些结果，再加上一个美国家族的连锁数据，表明该疾病是由成体钠通道的显性突变引起的，并且它可能是一种基因同质性疾病。高钾性周期性麻痹是第一种定位在人类基因组上的非进行性肌强直疾病。
